Like many other omics-based research projects, the Personal Genome Project aims to get a better understanding of the genetic bases for disease and a desire to use that knowledge to improve public health.

Also like other studies, the PGP, initiated in 2005 by George Church, a genetics professor at Harvard Medical School, is dependent on volunteers who willingly donate blood, saliva, and other biological specimens as well as demographic and personal health information such as the medications they are taking, allergies, and pre-existing conditions.

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.